Canonical Allele Identifier: CA416107372
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11905812T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845755T>G , CM000663.2:g.11845755T>G GRCh38
NC_000001.10:g.11905812T>G , CM000663.1:g.11905812T>G GRCh37
NC_000001.9:g.11828399T>G NCBI36
NG_012926.1:g.7029A>C , LRG_751:g.7029A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1950T>G (CLCN6) ENSP00000496938.1:n.*1950T>G
ENST00000446542.5:n.770T>G (NPPA-AS1)
ENST00000376480.7:c.*254A>C (NPPA) MANE Select ENSP00000365663.3:n.*254A>C
ENST00000610706.1:c.*248A>C (NPPA) ENSP00000483195.1:n.*248A>C
NM_006172.3:c.*254A>C , LRG_751t1:c.*254A>C (NPPA) NP_006163.1:n.*254A>C
NR_037806.1:n.1468T>G (NPPA-AS1)
NM_006172.4:c.*254A>C (NPPA) MANE Select NP_006163.1:n.*254A>C
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